This study, using exome sequencing, identified a de novo variant in SPTLC1 resulting in a p.Ala20Ser amino acid change in an individual diagnosed with juvenile-onset amyotrophic lateral sclerosis (ALS). Researchers also found SPTLC1 mutations in 0.34% of 5,607 ALS cases, and immunohistochemically confirmed the expression of SPTLC1 in spinal cord motor neurons, supporting its role in the pathogenesis of this fatal neurological disease.
read moreThis multiethnic, population-based study on 20,949 participants sheds important new light on susceptibility factors of brain infarcts, a marker of covert vascular brain injury commonly observed in older persons.
read moreThis study, using a novel bimodal PCR assay capable of amplifying nearly 100% of GC-rich sequences, provides comprehensive genotyping of the C9orf72 repeat region for over 2000 ALS samples collected in the National Institute of Neurological Disorders and Stroke (NINDS) Human Genetics Resource Center.
read moreThis study, published in bioRxiv, developed two collapsing strategies. The new analyses not only pinpoint risk regions in known genes but also highlight candidate genes as well.
read moreMiRNAs identified in this study could potentially be used as disease biomarkers and for the development of novel therapeutic approaches.
read moreThis study, using a large-scale genome-wide association framework and exome sequencing, identified KIF5A as a novel gene associated with ALS.
read moreThe identification of targets that effectively modulate vesicle trafficking in neurons, glia and myeloid cells could hold tremendous therapeutic value for C9ORF72 ALS and FTD and other CNS disorders.
read moreThis study, published in the journal Neuron, identifies a rare mutation found in ALS/FTD cases. These findings reinforce the importance of disturbed RNA metabolism in ALS/FTD and place altered membrane-less organelle dynamics at the center of ALS/FTD pathogenesis.
read moreThis study, published in Neuroscience, identifies risk pathways associated with Parkinson’s disease, using Genome-wide pathway-based association analysis.
read moreA study published in the journal of Parkinsonism and Related Disorders used Genome-Wide Complex Trait Analysis (GCTA) to estimate the heritable component of Multiple System Atrophy (MSA) due to common coding variability in imputed genotype data of 907 MSA cases and 3866 population-matched controls.
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